Canonical Allele Identifier: CA740459579
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1380919343
MyVariant Identifiers: chr1:g.94533138_94533141del (hg19) chr1:g.94067582_94067585del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067582_94067585del , CM000663.2:g.94067582_94067585del GRCh38
NC_000001.10:g.94533138_94533141del , CM000663.1:g.94533138_94533141del GRCh37
NC_000001.9:g.94305726_94305729del NCBI36
NG_009073.1:g.58565_58568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4268_1555-4265del MANE Select ENSP00000359245.3:n.1555-4268_1555-4265del
ENST00000649773.1:c.1555-4268_1555-4265del ENSP00000496882.1:n.1555-4268_1555-4265del
ENST00000370225.3:c.1555-4268_1555-4265del ENSP00000359245.3:n.1555-4268_1555-4265del
NM_000350.2:c.1555-4268_1555-4265del NP_000341.2:n.1555-4268_1555-4265del
NM_000350.3:c.1555-4268_1555-4265del MANE Select NP_000341.2:n.1555-4268_1555-4265del
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